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we hope you stay with us. this morning's first service at new birth missionary church starts in about 30 minutes. we'll have an in depth discussion on these allegations against bishop eddie long. the bishop will also have a news conference. martin savidge will be covering that for us. for now, sanjay gupta, m.d. begins now. good morning. i'm dr. sanjay gupta. when you think of the program "house," you probably think of medical mysteries. of course, they're all actors and the stories aren't real, but the truth is there are medical mysteries all around us. today we're going to take you to a place where patients go when no one has been able to tell them what is wrong. they're real medical mysteries, and they're with real people. let's get started.
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what if you got sick with a life-threatening condition, but your doctor doesn't know why or what to do. i'm going to take you inside a hospital, a sort of place of last resort, where a team of the most brilliant minds in medicine solve the nation's most mysterious illnesses. it's right outside the capital at the national institutes of health. you're going to meet some extraordinary patients who have been through the ringer. bethesda, maryland. inside the sprawling complex, dr. william gault leads an elite team of doctors and researchers. they are the best in the world. together they focus their vast expertise to try to save patients' lives. they are detectives in search of clues to solve mysteries no other doctors could solve. >> you're talk about patients who have been seen by some of the best in the country here. they're very good clinicians and
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diagnostic doctors everywhere. so you're taking the hardest of the -- the most challenging cases of all. >> we expect a high failure rate. we expect a success rate of perhaps 10%, 15% or so. >> the undiagnosed diseases program was launched only two years ago at nih. it accepts only the rarest of medical cases. it's not only about saves lives. here they're also hoping to discover new diseases and create new science. >> it's really sort of the inspiration that we all have as clinical researchers. >> in two years the udp has had more than 3,000 inquiries. more than 1,000 applications actually made it to dr. gaul's desk. >> this is an acceptance letter. >> but udp has accepted only a little over 300 patients. you have to tell a lot of people no. >> we do, yes. >> seems like that would be hard. >> it is hard. it's very hard. and i have to take some solace in the fact that, even though
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we're turning down a lot of people, we're still helping a chosen few. >> the few, with mysterious conditions no one can diagnose. kiley dawn mcpeak was born in may of 2004. the picture of a perfect baby girl. she developed like a precocious healthy toddler. >> she was above average on everything. i mean, she could say her abcs when she was like 18 months old. >> then at 3 1/2 kiley was diagnosed with type i diabetes. shortly after that, her mom and dad, gina and steven, noticed something wasn't right. it ganz with a voice tremor. >> i have to eat. i have to do shots. >> then kiley had a seizure. and by the time she turned 4, her face started to twitch.
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>> you okay, honey? >> no. >> the first day you sort of realize that there was something not right with her because she was a precocious child, zooming past all the milestones, everything, because you're a parent now and you're trying to figure out, is this just me being overly sensitive? >> i was told that i was being -- i was looking for things that weren't there. it's just really hard. it's -- i don't know. >> we actually spent a lot of time videotaping her when we saw the little things that started happening because no one believed us. >> do you know when your birthday is? >> christmas. >> good girl. >> the twitching soon spread down the entire right side of her body. her head began to tilt right. eating became a struggle. by then all the doctors agreed something was wrong, but what was it? the little girl was deteriorating. >> at this point, i didn't know if i should plan for her to go to kindergarten or if we should
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plan a funeral. >> sally massagee's mystery did not begin until later in life. she was in her late 40s when her muscles began growing out of control. >> i remember looking at her chart for the first time. >> this was referred by an in e endocrinologist at duke. and the endocrinologist said, in my 38 years, i have never seen a case like this, something like that. wow, that's sort of impressive. what does that mean? when you see a picture then, that's pretty impressive. >> like all the patients accepted for the undiagnosed diseases program, sally and her husband, and kylie and her mom and dad, would come to nih for a week of exhaustive tests. >> she's had a spinal tap before? >> where a medical strike force was setting out to solve a mystery and so save their lives. so what is next for these two patients we've been covering? the most invasive, cumbersome,
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and extensive testing they've ever had to experience. what i learn is that people expect an answer at the end of a hospitalization. will they find one? some tough questions ahead for kylie's parents as well as they continue their desperate search for a diagnosis. and when it does, men with erectile dysfunction can be more confident in their ability to be ready with cialis for daily use. cialis for daily use is a clinically proven low-dose tablet you take every day, so you can be ready anytime the moment's right. ♪ tell your doctor about your medical condition and all medications, and ask if you're healthy enough for sexual activity. don't take cialis if you take nitrates for chest pain, as this may cause an unsafe drop in blood pressure. [ man ] don't drink alcohol in excess with cialis. side effects may include headache, upset stomach, delayed backache, or muscle ache. to avoid long-term injury, seek immediate medical help for an erection lasting more than 4 hours. if you have any sudden decrease or loss in hearing or vision, stop taking cialis and call your doctor right away.
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was happening to kylie. her voice tremored. the twitches that were con vulsing the entire right side of her body. >> i feel like a bad parent. like why can't i help my kid? >> i can't really put it into words. just helpless. >> kylie and her parents made their way from reno, nevada, to bethesda, maryland, and the nih, in the hopes of finding out what in the world could be wrong with kylie. >> do you want to know what's going on with kylie if the next sentence was but there's nothing we can do about it? >> yeah. >> why? >> just i think it would be nice to have a prognosis, to know. i mean, even if it's not treatable, if it is terminal, then how much time we have left as opposed to not knowing.
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you know, it can all end tomorrow. >> kylie will undergo a week long series of complex tests and evaluations by top medical specialists at nih. it's physically draining for everyone. and for kylie's mom and dad, emotionally wrenching. the week is intense. >> i don't think anybody's seen anything quite like kylie. this is a very complex case. it could be difficult to solve. >> clearly in the right leg, you see a lot of movement here, the right foot sort of the foot is turned inward. they call that dystonia, or abnormal tone. a lot of tone in these muscle groups here. left side has it as well although not quite as bad. there's a constant movement going on. you can see it in the feet and hands. you can see it in her eyelids and clearly the voice. >> can you pinch the wings for
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me? >> dr. gahl and his team look for everything for clues. >> something curious about what happens with sleep. >> it stops when she sleeps. completely stops. >> that's a really important clue. >> very important, yes. >> kylie's tests begin in early morning. >> beautiful. can i tell you something? you are all done. good job. >> and go late into the night. >> say baby boy. >> baby boy. >> okay. kitty cat. say kitty cat. >> kitty cat. >> it's hard. it's really hard. hopefully, it's for a good cause. >> in the hallways, specialists hold meetings on the fly, throwing out new theorys, hoping something they've learned fits into the bigger puzzle. and the single diagnosis. >> a lot of unanswered questions, absolutely. >> for a lot of patients, as we were investigating this, really got the sense of this ends up being a place of last hope, or last resort for them. that's a lot of pressure.
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>> it is. we try to be realistic about it and get our patients to be realistic about the issues too. you've been to the best places in the country. now you're coming here. we only have a 10% to 15% success rate. so i don't want you to get your hopes up really too, too high, but on the other hand, we don't want to take all hope away. >> sally masagee knew what she was doing there. >> i took that disclaimer, and i heard it. i mean, i still had a strong dose of hope. >> and up next, you're going to hear more about sally. her own body is sort of turning against her. doctors have been baffled. question is can they solve the puzzle? her story is next. what i wouldn't do for a do-over. [ female announcer ] neutrogena® clinical skincare, exclusive ion2 complex combined with activating cream helps restore collagen depleted skin. neutrogena clinical skincare is clinically tested
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welcome back. sally massagee has a debilitating disease that is causing all of her muscles to grow out of control, so massive they are actually start to go crush her. i joined sally and her daughter at the program at nih. they put her through an exhaustive battery of tests and evaluations. here's her story. at 53 years old, sally massagee was physically ripped. >> everybody assumed that i spent a whole lot of time in the gym. >> but sally didn't left weights. in fact, whatever was causing her body to bulk up uncontrollably was also taking away her ability to live her life. >> it was very frustrating. i was losing the ability to do the things i love to do.
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it became increasingly difficult just to walk. at some point i knew, if it continued, it would kill me. >> she's seen countless medical specialists. no one had an explanation. that's why dr. william gahl and his team of world class specialists at the undiagnosed diseases program was trying to solve the mystery. >> this is super impressive. i mean, you literally see a cleavage right in the middle her back because those muscles are so big. dr. william gahl is the program's lead investigator. >> the bottom line, the bone is not involved. it's not acro megaly. it's not just confined to the muscles. what could it be? >> this is an image of sally's brain. that's incredible. >> when the image was found that even the muscles that govern the movement of the eye, which are
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really smaug muscles, are huge. the neuroradiologist saw this and sort of the went wild over this. look at the size of these muscles. they're three or four times bigger. >> you've never seen anything quite like this. >> there's no way to make those muscles bigby moving your eyes a lot. why would they be that big? >> it's a clue. it suggests something inside the muscle itself. so the udp team took a sample. you took some muscle from her arm? >> right. and really this was one of those sort of judgment decisions because she had had a muscle biopsy one year before that was read as normal. so we weren't like 99% sure we should do this. we were like 70%, 80% sure. >> in five days the tests are complete. sally is sent home to north carolina but no diagnosis, not yet. in fact, gahl and his team treat their patients like a crime scene. they collect all the evidence they can find and then try to make sense of it.
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>> what we do like to sort of detective work, but, remember, a lot of the detective work takes place after the patients have gone. >> but that decision to take the sample of muscle tissue from sally's bicep, in time, that will prove to be a key part of this puzzle. so you're probably wondering how do all these clues come together? is it solvable? ahead, we'll have the conclusion of this medical mystery. :tv]
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[humming] ooh! here we go. announcer: you don't have to be perfect to be a perfect parent, because kids in foster care don't need perfection. they need you. t t adwiwiout food al topping our medical news headlines, a decision about a
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popular diabetes drug linked to concerns about heart problems. the fda decided this week that avandia should be restricted to patients who can't control their diabetes with other medications. gsk or glaxosmithkline has responded saying the company continues to believe that avandia is an important treatment for patient with type two diabetes. and also the european medicines agency, sort of the european equivalent of the fda, they say the drug should be pulled entirely from the market, shouldn't even be advertised. of course, that decision must be ratified still by the european commission. and a final decision is expected in the next few weeks. also in other news, you may remember the whole thing a month ago about an iowa company that was forced to recall millions of eggs because of a salmonella outbreak. now the owner of an iowa firm involved in the recall has apologized to anyone who may have become sick from these tainted eggs. the owner of wright county eggs says he was horrified when he learned a widespread salmonella alert possibly originated at his company. the house subcommittee is investigating and the president
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of another iowa egg farm has declined to answer congressmens' questions when asked about questionable conditions at one of his facilities. so the census bureau says poverty is at the highest level in decades. we point this out because when thinking about joining a gym, trying to get fit, people tell me they can't afford it. these are tough economic times. i wanted to show you how i work out. my trainer hooked me one an exercise circuit program that i can do just about anywhere, even when i'm on the road. a local park being the easiest place. you do chin-ups, lunges, jumping jacks, even running short hills without a lot of rest in between. it's a great way to get your heart rate up. it's like being in gym class in grade school. you want to do -- you want to use what's around you. in this case it's a green workout, and you can use all these different muscle groups and really exercise them. a workout like this, i can tell you, gets your heart rate up to the maximum level, keep it there for at least 30 minutes. of course, that's what the american heart association want
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you to do. now, will this team of brilliant doctors be able to solve the puzzle of sally and kiley? mmmm. you don't love me anymore do you billy? what? i didn't buy this cereal to sweet talk your taste buds it's for my heart health. so i can't have any? if you can deprive me of what can help lower my cholesterol... and live with yourself. right. mmm, i worry about your mother. cry herself to sleep every night over my arteries, but have yourself a bowl. good speech dad. [ whimper ] [ male announcer ] honey nut cheerios tastes great and its whole grain oats can help lower cholesterol. bee happy. bee healthy. ♪ you struggle to control your blood sugar. you exercise and eat right, but your blood sugar may still be high, and you need extra help.
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ask your doctor about onglyza, a once daily medicine used with diet and exercise to control high blood sugar in adults with type 2 diabetes. adding onglyza to your current oral medicine may help reduce after meal blood sugar spikes and may help reduce high morning blood sugar. [ male announcer ] onglyza should not be used to treat type 1 diabetes or diabetic ketoacidosis. tell your doctor if you have a history or risk of diabetic ketoacidosis. onglyza has not been studied with insulin. using onglyza with medicines such as sulfonylureas may cause low blood sugar. some symptoms of low blood sugar are shaking, sweating and rapid heartbeat. call your doctor if you have an allergic reaction like rash, hives or swelling of the face, mouth or throat. ask your doctor if you also take a tzd as swelling in the hands, feet or ankles may worsen. blood tests will check for kidney problems. you may need a lower dose of onglyza if your kidneys are not working well or if you take certain medicines. [ male announcer ] ask your doctor about adding onglyza. extra help. extra control. you may be eligible
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to pay $10 a month with the onglyza value card program. we're back with "sjmd." all morning we've had the opportunity to meet patients with mysterious diseases. they came to the nih as a last resort to find out if anyone could tell them what of wrong,
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to come up with some treatment. the question -- have they been able to solve these mysteries. as tests came back, clues showed the electrical charges in kiley's brain were not coming from just one area but, in fact, from all over. so, they were back to square one. >> well, you try to differentiate whether this is something that was genetic or something environmental. in other words, that happened to her. and really, that's a dichotomy here. >> in time, an analysis of kiley's dna revealed the genetic clue. they found a mutation in a particular gene that makes a protein called laforin. is it possible that we're talking about with regard to kiley is truly something that's never been described before? >> it's very possible, you know, that's true. >> brand new? >> brand new mutation and maybe identifying a gene that is -- is not known previously to cause a human disease.
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>> back home in reno, nevada, gina and stephen are trying to focus on enjoying the time they have as a family. although kiley is deteriorating, she's happy. >> maybe someday we'll get that phone call, hey, we think we might know what it is. >> in bethesda, maryland, the doctors at the undiagnosed diseases program are digging deeper into that genetic clue. they're doing a dna analysis of kyley's parents and sisters. they know it is now a race. >> and every new case that comes to us brings with it a human story. i think the important thing is for us as professionals to look at the successes that we have. and to try to not dwell on the -- on the failures we have because we fail so often. >> but not always. luckily for sally, the experts at the udp solved her mystery. >> i expected miracles from
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them, and they gave them to me. >> the tissue sample they took from sally's muscle hit the jackpot. in the red staining of the biopsy, scientists found the presence of amyloid, abnormal proteins that come from cells in the bone marrow. >> that was a huge hit for us. >> mystery solved. the diagnosis -- a.l. amyloidosis. a rare disease in which proteins deposit themselves in a patient's organs or tissues. sally's was a mystery because the proteins here manifested in her skeletal muscles. >> you get mysteries that you don't solve, and you get mysteries that you solve. this is one that you get to put a check in the solved column? >> yeah, yeah. >> that's got to be a pretty good feeling. >> oh, it was the best. basically it's -- sort of justifies our existence. >> but for sally, a diagnosis meant only that now she had a chance for survival. there is no cure for this
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disease. in june of last year at the mayo clinic, she underwent chemotherapy and a stem cell transplant in the fight of her life. >> and there were times in the process when i thought it was real possible i'd die. >> today, sally massagee is far from 100%. doctors don't know if sally's body will ever return to what it was like before the disease struck. but for sally, that's not what's important. >> those routine, ordinary moments of life are so wonderful and are so precious. and i have them, and i'm so grateful to -- that they not only found it, but they found it just in time. >> i got to tell you, just incredible stuff. i've been fascinated by the doctors at the undiagnosed diseases program long before i met them. they are doctors who are trying to look at the anomalies, the aberrations that most people dismiss and trying to make

Sanjay Gupta MD
CNN September 26, 2010 7:30am-8:00am EDT

Series/Special. Dr. Gupta discusses medical issues.

TOPIC FREQUENCY Kylie 13, Kiley 7, Us 7, Nih 6, Sally Massagee 4, Cialis 3, Sally 3, Bethesda 3, Maryland 3, Diabetes 2, Dr. William Gahl 2, Nevada 2, Neutrogena 2, Fda 2, Gina 2, Gahl 2, Sally Masagee 1, Dr. Sanjay Gupta 1, Steven 1, Sanjay Gupta 1
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